A syndrome characterized by severe hypotonia (floppiness), poor suck and feeding problems in early infancy followed later in infancy by excessive eating that, if unchecked, leads gradually to huge obesity. All children with Prader-Willi syndrome (PWS) show developmental delay and mild-to-moderate mental retardation with multiple learning disabilities. Hypogonadism is present in both females (with small labia minora and clitoris) and males (with underdeveloped scrotum and nondescent of the testes). Short stature and small hands and feet are common.
The basic cause of PWS is extraordinary. It is due to absence of the paternally contributed region on chromosome 15q11-q13. What is missing is not just any chromosome 15q11-13 region but specifically that from the father. The child can have two copies of chromosome region 15q11-13 but, if both are from the mother (a phenomenon called maternal disomy), the child will still have PWS for lack of the region from the father.
Several of the genes in region 15q11-13 are subject to genomic imprinting. This explains why PWS results only when the paternally-contributed region 15q11-13 is absent. When the maternally-contributed region 15q11-13 is missing, the result is a different disease called Angelman syndrome.
There is currently no specific treatment or cure for PWS. Parents are advised to limit consumption of high-calorie foods, and to use techniques such as special education, speech therapy, and physical therapy to maximize the child’s potential. Severe psychiatric illness is common in PWS adults. Those with psychotic illness have a double maternal copy of 15q11-13, suggesting that genes in this region are important in causing psychotic illness.
Of or relating to a meal. Prandial pain is pain while eating. Although medical terms usually have a reasonably logical derivation, this is not the case with “prandial.” It comes from the Latin “prandium” which meant “a late breakfast or lunch.” “Prandium” was derived in turn from the Greek “pro-“, before + “endios”, midday. Now, […]
- Prayer of Maimonides
“Almighty God, Thou has created the human body with infinite wisdom. Ten thousand times ten thousand organs hast Thou combined in it that act unceasingly and harmoniously to preserve the whole in all its beauty the body which is the envelope of the immortal soul. They are ever acting in perfect order, agreement and accord. […]
A condition in pregnancy characterized by abrupt hypertension (a sharp rise in blood pressure), albuminuria (leakage of large amounts of the protein albumin into the urine) and edema (swelling) of the hands, feet, and face. Pre-eclampsia is the most common complication of pregnancy. It affects about 5% of pregnancies. It occurs in the third trimester […]
- Pre-sleep dream
Also called a hypnagogic hallucination, this type of dream is characteristically vivid and occurs as one is falling asleep or awakening.
One of several plasma proteins such as transthyretin that migrate faster than albumin in an acidic starch gel.